Alba Pilotta

Brescia, Italy

Last Updated: 09/26/2026

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Found 23 publications

Letter to the Editors: Concerning "SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient" by Johnsen et al.

Letter to the Editors: Concerning "SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient" by Johnsen et al.

Journal: Molecular genetics and metabolism

Published: May 05, 2025

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

Journal: Clinical genetics

Published: February 21, 2025

Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release.

Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release.

Journal: Science advances

Published: July 10, 2024

Generation of human induced pluripotent stem cell lines derived from three Noonan syndrome patients from a single family carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutation.

Generation of human induced pluripotent stem cell lines derived from three Noonan syndrome patients from a single family carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutation.

Journal: Stem cell research

Published: November 24, 2023

Newborn with isolated severe deficiency of cranial vault ossification: a case of cleidocranial dysplasia.

Newborn with isolated severe deficiency of cranial vault ossification: a case of cleidocranial dysplasia.

Journal: Archives of disease in childhood. Fetal and neonatal edition

Published: May 08, 2023

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.

Journal: Genes

Published: October 25, 2022

Early onset of puberty during COVID-19 pandemic lockdown: experience from two Pediatric Endocrinology Italian Centers.

Early onset of puberty during COVID-19 pandemic lockdown: experience from two Pediatric Endocrinology Italian Centers.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: September 26, 2022

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.

Journal: Genes

Published: June 20, 2022

Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.

Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.

Journal: Italian journal of pediatrics

Published: February 01, 2019

Clinical and Laboratory Features of 184 Italian Pediatric Patients Affected with Selective IgA Deficiency (SIgAD): a Longitudinal Single-Center Study.

Clinical and Laboratory Features of 184 Italian Pediatric Patients Affected with Selective IgA Deficiency (SIgAD): a Longitudinal Single-Center Study.

Journal: Journal of clinical immunology

Published: January 18, 2019

Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients.

Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: September 05, 2018

Is retesting in growth hormone deficient children really useful?

Is retesting in growth hormone deficient children really useful?

Journal: Minerva endocrinologica

Published: June 16, 2016

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Last Updated: 09/26/2026